Disease #00004 (CD (Canavan Disease), OMIM:271900)

Official abbreviation CD
Name Canavan Disease
OMIM ID 271900
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 80
Phenotype entries for this disease -
Associated with 1 gene ASPA
Associated tissues -
Disease features -
Remarks -


Individuals

80 entries on 1 page. Showing entries 1 - 80.
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Reference     

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Remarks     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00000804 Shaag A1, Anikster Y, Christensen E, Glustein JZ, Fois A, Michelakakis H, Nigro F, Pronicka E, Ribes A, Zabot MT, et al.(1995) - - CD - ASPA ASPA 1 1 Y Yang
00000805 Shaag A1, Anikster Y, Christensen E, Glustein JZ, Fois A, Michelakakis H, Nigro F, Pronicka E, Ribes A, Zabot MT, et al.(1995) - - CD - ASPA ASPA 1 1 Y Yang
00000806 Shaag A1, Anikster Y, Christensen E, Glustein JZ, Fois A, Michelakakis H, Nigro F, Pronicka E, Ribes A, Zabot MT, et al.(1995) - - CD - ASPA ASPA 1 1 Y Yang
00000807 Shaag A1, Anikster Y, Christensen E, Glustein JZ, Fois A, Michelakakis H, Nigro F, Pronicka E, Ribes A, Zabot MT, et al.(1995) - - CD - ASPA ASPA 1 1 Y Yang
00000808 Shaag A1, Anikster Y, Christensen E, Glustein JZ, Fois A, Michelakakis H, Nigro F, Pronicka E, Ribes A, Zabot MT, et al.(1995) - - CD - ASPA ASPA 1 1 Y Yang
00000809 Kaul R1, Gao GP, Matalon R, Aloya M, Su Q, Jin M, Johnson AB, Schutgens RB, Clarke JT.(1996) - - CD - ASPA ASPA 1 1 Y Yang
00000810 Kaul R1, Gao GP, Matalon R, Aloya M, Su Q, Jin M, Johnson AB, Schutgens RB, Clarke JT.(1996) - - CD - ASPA ASPA 1 1 Y Yang
00000811 Zeng BJ1, Wang ZH, Ribeiro LA, Leone P, De Gasperi R, Kim SJ, Raghavan S, Ong E, Pastores GM, Kolodny EH.(2002) - - CD - ASPA ASPA 1 1 Y Yang
00000812 Zeng BJ1, Wang ZH, Ribeiro LA, Leone P, De Gasperi R, Kim SJ, Raghavan S, Ong E, Pastores GM, Kolodny EH.(2002) - - CD - ASPA ASPA 1 1 Y Yang
00000813 Zeng BJ1, Wang ZH, Ribeiro LA, Leone P, De Gasperi R, Kim SJ, Raghavan S, Ong E, Pastores GM, Kolodny EH.(2002) - - CD - ASPA ASPA 1 1 Y Yang
00000814 Elpeleg ON1, Shaag A.(1999) - - CD - ASPA ASPA 1 1 Y Yang
00000815 Zeng BJ1, Wang ZH, Ribeiro LA, Leone P, De Gasperi R, Kim SJ, Raghavan S, Ong E, Pastores GM, Kolodny EH.(2002) - - CD - ASPA ASPA 1 1 Y Yang
00000816 Rady PL1, Penzien JM, Vargas T, Tyring SK, Matalon R.(2000) - - CD - ASPA ASPA 1 1 Y Yang
00000817 Zeng BJ1, Wang ZH, Ribeiro LA, Leone P, De Gasperi R, Kim SJ, Raghavan S, Ong E, Pastores GM, Kolodny EH.(2002) - - CD - ASPA ASPA 1 1 Y Yang
00000818 Kaul R1, Gao GP, Balamurugan K, Matalon R.(1993) - - CD - ASPA ASPA 1 1 Y Yang
00000819 Kaul R1, Gao GP, Aloya M, Balamurugan K, Petrosky A, Michals K, Matalon R.(1994) - - CD - ASPA ASPA 1 1 Y Yang
00000820 Kaul R1, Gao GP, Aloya M, Balamurugan K, Petrosky A, Michals K, Matalon R.(1994) - - CD - ASPA ASPA 1 1 Y Yang
00000821 Kaul R1, Gao GP, Michals K, Whelan DT, Levin S, Matalon R.(1995) - - CD - ASPA ASPA 1 1 Y Yang
00000822 Shaag A1, Anikster Y, Christensen E, Glustein JZ, Fois A, Michelakakis H, Nigro F, Pronicka E, Ribes A, Zabot MT, et al.(1995) - - CD - ASPA ASPA 1 1 Y Yang
00000823 Shaag A1, Anikster Y, Christensen E, Glustein JZ, Fois A, Michelakakis H, Nigro F, Pronicka E, Ribes A, Zabot MT, et al.(1995) - - CD - ASPA ASPA 1 1 Y Yang
00000824 Shaag A1, Anikster Y, Christensen E, Glustein JZ, Fois A, Michelakakis H, Nigro F, Pronicka E, Ribes A, Zabot MT, et al.(1995) - - CD - ASPA ASPA 1 1 Y Yang
00000825 Kaul R1, Gao GP, Matalon R, Aloya M, Su Q, Jin M, Johnson AB, Schutgens RB, Clarke JT.(1996) - - CD - ASPA ASPA 1 1 Y Yang
00000826 Kaul R1, Gao GP, Matalon R, Aloya M, Su Q, Jin M, Johnson AB, Schutgens RB, Clarke JT.(1996) - - CD - ASPA ASPA 1 1 Y Yang
00000827 Kaul R1, Gao GP, Matalon R, Aloya M, Su Q, Jin M, Johnson AB, Schutgens RB, Clarke JT.(1996) - - CD - ASPA ASPA 1 1 Y Yang
00000828 Kaul R1, Gao GP, Matalon R, Aloya M, Su Q, Jin M, Johnson AB, Schutgens RB, Clarke JT.(1996) - - CD - ASPA ASPA 1 1 Y Yang
00000829 Kaul R1, Gao GP, Matalon R, Aloya M, Su Q, Jin M, Johnson AB, Schutgens RB, Clarke JT.(1996) - - CD - ASPA ASPA 1 1 Y Yang
00000830 Kaul R1, Gao GP, Matalon R, Aloya M, Su Q, Jin M, Johnson AB, Schutgens RB, Clarke JT.(1996) - - CD - ASPA ASPA 1 1 Y Yang
00000831 Kobayashi K1, Tsujino S, Ezoe T, Hamaguchi H, Nihei K, Sakuragawa N.(1998) - - CD - ASPA ASPA 1 1 Y Yang
00000832 Elpeleg ON1, Shaag A.(1999) - - CD - ASPA ASPA 1 1 Y Yang
00000833 Elpeleg ON1, Shaag A.(1999) - - CD - ASPA ASPA 1 1 Y Yang
00000834 Elpeleg ON1, Shaag A.(1999) - - CD - ASPA ASPA 1 1 Y Yang
00000835 Elpeleg ON1, Shaag A.(1999) - - CD - ASPA ASPA 1 1 Y Yang
00000836 Elpeleg ON1, Shaag A.(1999) - - CD - ASPA ASPA 1 1 Y Yang
00000837 Elpeleg ON1, Shaag A.(1999) - - CD - ASPA ASPA 1 1 Y Yang
00000838 Elpeleg ON1, Shaag A.(1999) - - CD - ASPA ASPA 1 1 Y Yang
00000839 Rady PL, Vargas T, Tyring SK, Matalon R, Langenbeck U.(1999) - - CD - ASPA ASPA 1 1 Y Yang
00000840 Sistermans EA1, de Coo RF, van Beerendonk HM, Poll-The BT, Kleijer WJ, van Oost BA.(2000) - - CD - ASPA ASPA 1 1 Y Yang
00000841 Sistermans EA1, de Coo RF, van Beerendonk HM, Poll-The BT, Kleijer WJ, van Oost BA.(2000) - - CD - ASPA ASPA 1 1 Y Yang
00000842 Sistermans EA1, de Coo RF, van Beerendonk HM, Poll-The BT, Kleijer WJ, van Oost BA.(2000) - - CD - ASPA ASPA 1 1 Y Yang
00000843 Sistermans EA1, de Coo RF, van Beerendonk HM, Poll-The BT, Kleijer WJ, van Oost BA.(2000) - - CD - ASPA ASPA 1 1 Y Yang
00000844 Olsen TR1, Tranebjaerg L, Kvittingen EA, Hagenfeldt L, M?ller C, Nilssen O.(2002) - - CD - ASPA ASPA 1 1 Y Yang
00000845 Olsen TR1, Tranebjaerg L, Kvittingen EA, Hagenfeldt L, M?ller C, Nilssen O.(2002) - - CD - ASPA ASPA 1 1 Y Yang
00000846 Zeng BJ1, Wang ZH, Ribeiro LA, Leone P, De Gasperi R, Kim SJ, Raghavan S, Ong E, Pastores GM, Kolodny EH.(2002) - - CD - ASPA ASPA 1 1 Y Yang
00000847 Zeng BJ1, Wang ZH, Ribeiro LA, Leone P, De Gasperi R, Kim SJ, Raghavan S, Ong E, Pastores GM, Kolodny EH.(2002) - - CD - ASPA ASPA 1 1 Y Yang
00000848 Zeng BJ1, Wang ZH, Ribeiro LA, Leone P, De Gasperi R, Kim SJ, Raghavan S, Ong E, Pastores GM, Kolodny EH.(2002) - - CD - ASPA ASPA 1 1 Y Yang
00000849 Zeng BJ1, Wang ZH, Ribeiro LA, Leone P, De Gasperi R, Kim SJ, Raghavan S, Ong E, Pastores GM, Kolodny EH.(2002) - - CD - ASPA ASPA 1 1 Y Yang
00000850 Zeng BJ1, Wang ZH, Ribeiro LA, Leone P, De Gasperi R, Kim SJ, Raghavan S, Ong E, Pastores GM, Kolodny EH.(2002) - - CD - ASPA ASPA 1 1 Y Yang
00000851 Zeng BJ1, Wang ZH, Ribeiro LA, Leone P, De Gasperi R, Kim SJ, Raghavan S, Ong E, Pastores GM, Kolodny EH.(2002) - - CD - ASPA ASPA 1 1 Y Yang
00000852 Zeng BJ1, Wang ZH, Ribeiro LA, Leone P, De Gasperi R, Kim SJ, Raghavan S, Ong E, Pastores GM, Kolodny EH.(2002) - - CD - ASPA ASPA 1 1 Y Yang
00000853 Zeng BJ1, Wang ZH, Ribeiro LA, Leone P, De Gasperi R, Kim SJ, Raghavan S, Ong E, Pastores GM, Kolodny EH.(2002) - - CD - ASPA ASPA 1 1 Y Yang
00000854 Tacke U1, Olbrich H, Sass JO, Fekete A, Horvath J, Ziyeh S, Kleijer WJ, Rolland MO, Fisher S, Payne S, Vargiami E, Zafeiriou DI, Omran H.(2005) - - CD - ASPA ASPA 1 1 Y Yang
00000855 Tacke U1, Olbrich H, Sass JO, Fekete A, Horvath J, Ziyeh S, Kleijer WJ, Rolland MO, Fisher S, Payne S, Vargiami E, Zafeiriou DI, Omran H.(2005) - - CD - ASPA ASPA 1 1 Y Yang
00000856 Di Pietro V1, Gambacurta A, Amorini AM, Finocchiaro A, D'Urso S, Ceccarelli L, Tavazzi B, Giardina B, Lazzarino G.(2008) - - CD - ASPA ASPA 1 1 Y Yang
00000857 Zhang H1, Liu X, Gu X.(2010) - - CD - ASPA ASPA 1 1 Y Yang
00000858 Zhang H1, Liu X, Gu X.(2010) - - CD - ASPA ASPA 1 1 Y Yang
00000859 Di Pietro V1, Cavallari U, Amorini AM, Lazzarino G, Longo S, Poggiani C, Cavalli P, Tavazzi B.(2013) - - CD - ASPA ASPA 1 1 Y Yang
00000860 Bijarnia S1, Kohli S, Puri RD, Jacob RJ, Saxena R, Jalan A, Sistermans EA, Mahmood S, Verma IC.(2013) - - CD - ASPA ASPA 1 1 Y Yang
00000861 Bijarnia S1, Kohli S, Puri RD, Jacob RJ, Saxena R, Jalan A, Sistermans EA, Mahmood S, Verma IC.(2013) Indian - CD - ASPA ASPA 1 1 Y Yang
00000862 Eke GH1, Iscan A, Cece H, Calik M.(2012) Turkish - CD - ASPA ASPA 1 1 Y Yang
00000863 Hussain R1, Daud S, Kakar N, Ahmad A, Baloch AH, Tareen AM, Kakar MA, Ahmad J.(2012) Pakistani - CD - ASPA ASPA 1 1 Y Yang
00000864 Schober H1, Luetschg J, Hoeliner I, Kalb S, Simma B.(2011) non-Jewish - CD - ASPA ASPA 1 1 Y Yang
00000865 Schober H1, Luetschg J, Hoeliner I, Kalb S, Simma B.(2011) - - CD - ASPA ASPA 1 1 Y Yang
00000866 Delaney KE1, Kralik SF2, Hainline BE3, Golomb MR4.(2015) - - CD - ASPA ASPA 1 1 Y Yang
00000867 Delaney KE1, Kralik SF2, Hainline BE3, Golomb MR4.(2015) - - CD - ASPA ASPA 1 1 Y Yang
00005408 Dotan K et al. (2010) - - CD - ASPA ASPA 1 1 XY Liu
00005409 Zayed H (2015) Ashkenazi Jewish - CD - ASPA ASPA 1 1 XY Liu
00005410 Zayed H (2015) Ashkenazi Jewish - CD - ASPA ASPA 1 1 XY Liu
00005411 Zayed H (2015) Greek, Turkish - CD - ASPA ASPA 1 1 XY Liu
00005412 Zayed H (2015) Greek - CD - ASPA ASPA 1 1 XY Liu
00005413 Zayed H (2015) Turkish - CD - ASPA ASPA 1 1 XY Liu
00005414 Zayed H (2015) Ecuador/Non-Jewish - CD - ASPA ASPA 1 1 XY Liu
00005415 Zayed H (2015) Non-Jewish (pan-European) - CD - ASPA ASPA 1 1 XY Liu
00005416 Zayed H (2015) British - CD - ASPA ASPA 1 1 XY Liu
00005417 Zaki OK et al. (2016) - - CD - ASPA ASPA 1 1 XY Liu
00005418 Ashrafi M et al. (2015) Iranian - CD - ASPA ASPA 1 1 XY Liu
00005419 Gowda VK et al. (2016) - - CD - ASPA ASPA 1 1 XY Liu
00005420 Zaki OK et al. (2017) - - CD - ASPA ASPA 6 1 XY Liu
00005421 Zaki OK et al. (2017) - - CD - ASPA ASPA 2 1 XY Liu
00005422 Kocak A et al. (2017) - - CD - ASPA ASPA 1 1 XY Liu
00005423 Kocak A et al. (2017) - - CD - ASPA ASPA 1 1 XY Liu
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